Details
| Name | R155Afs*66 |
| Type | gene |
| Species | Homo sapiens |
| Tissue | NA |
| Experiment Method | NA |
| Up/Down | NA |
| Pro/Anti | NA |
| Funtion Description | The results of the in vitro cell experiment further demonstrated that the novel homozygous frameshift mutations (S84Cfs*17 and R155Afs*66) of CHST6 detected in the consanguineously married families could lead to truncated proteins with defect functions, higher ER stress and apoptotic levels, decreased cell migration, and excessive cell senescence in corneal stromal cells, thereby affecting the normal functions of corneal stromal cells. |
| Regulation Gene | NA |
| Year | 2022 |
| Pubmed ID | 34826417 |
| Title | Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6 |
| Drug | NA |
| Disease | Macular corneal dystrophy |
| Environment Factors | NA |
| Circulating | NA |
| Variant | NA |
| High-throughput | NA |